Clinical Neuropathology最新文献

Clinical Neuropathology 2-2026. 临床神经病理学2-2026。

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2026-05-07 DOI: 10.5414/NPP45041

Christian Mawrin

引用次数: 0

Neuronal and glial intranuclear inclusions in a patient with oculopharyngodistal myopathy associated with noncoding GGC repeat expansions in GIPC1. 与非编码GGC重复扩增相关的眼咽远端肌病患者的神经元和胶质核内包涵体

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2026-04-30 DOI: 10.5414/NP301744

Kaoru Yagita, Hotake Takizawa, Terunori Sano, Yuji Nakayma, Masashi Ogasawara, Ichizo Nishino, Yasushi Ohya, Yuji Takahashi, Masaki Takao

{"title":"Neuronal and glial intranuclear inclusions in a patient with oculopharyngodistal myopathy associated with noncoding GGC repeat expansions in GIPC1.","authors":"Kaoru Yagita, Hotake Takizawa, Terunori Sano, Yuji Nakayma, Masashi Ogasawara, Ichizo Nishino, Yasushi Ohya, Yuji Takahashi, Masaki Takao","doi":"10.5414/NP301744","DOIUrl":"10.5414/NP301744","url":null,"abstract":"Noncoding GGC repeat expansion of various genes leads to oculopharyngodistal myopathy (OPDM), an adult-onset progressive neuromuscular disorder characterized by ophthalmoplegia, pharyngeal dysfunction, and distal limb muscular weakness. Recently, clinical overlap among noncoding GGC repeat-associated neuromuscular diseases, including OPDM, fragile X-associated tremor/ataxia syndrome (FXTAS), and neuronal intranuclear inclusion disease (NIID), has been recognized. Here, we present an autopsy case of OPDM with GIPC1 mutation (OPDM2) in a 56-year-old man. Histopathological studies revealed loss of myelinated fibers in the cerebrum and the presence of neuronal and glial intranuclear inclusions, which are commonly observed in FXTAS and NIID. Numerous intranuclear inclusions in oligodendrocytes were a characteristic feature of our autopsied case. Although GGC repeat expansions in distinct genes produce similar neuropathological findings, such as neuronal and glial intranuclear inclusions, the affected cell populations differ.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147789854","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Bifocal cerebellar liponeurocytoma with atypical features: A case report and a literature review. 不典型双侧小脑脂质神经细胞瘤1例并文献复习。

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2026-04-17 DOI: 10.5414/NP301728

Maysa Al-Hussaini, Sarah Al Sharie, Saif Azzam, Madiha Erashdi, Asem Mansour, Mouness Obeidat

{"title":"Bifocal cerebellar liponeurocytoma with atypical features: A case report and a literature review.","authors":"Maysa Al-Hussaini, Sarah Al Sharie, Saif Azzam, Madiha Erashdi, Asem Mansour, Mouness Obeidat","doi":"10.5414/NP301728","DOIUrl":"10.5414/NP301728","url":null,"abstract":"Cerebellar liponeurocytoma (cLNC) is a rare tumor. It affects adults with no sex predilection. It appears as a heterogeneously enhancing mass, most commonly unifocal. Histologically, it is a biphasic neurocytic tumor with lipomatous component, with minimal atypia, and low proliferative index, corresponding to central nervous system (CNS) World Health Organization (WHO) grade 2. TP53 missense mutation is reported in 20% of cases. Gross total resection, with or without radiotherapy, is considered an adequate treatment. Bifocality and features of anaplasia are rarely reported. We are reporting a 41-year-old lady with bilateral cerebellar contrast-enhancing masses who underwent gross total resection 3 months apart. Pathology revealed features consistent with cLNC. However, the tumor resected from the right cerebellar hemisphere demonstrated atypical morphological features, including microvascular proliferation and necrosis. Ki-67 proliferative marker was estimated at 10% in the most active areas. Next-generation sequencing (NGS) revealed 2 pathogenic mutations within exonic regions of ERBB2, and PIK3CA genes, and a variant mutation of unknown significance (VUS) involving the PDGFRA gene. DNA methylation profiling confirmed the diagnosis of cLNC. The patient has been under observation without any further intervention for 70 months since diagnosis, with no evidence of disease recurrence. In addition to the rarity of cLNC, this is a unique case in terms of bifocality, anaplastic histology, and the described genetic abnormalities.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147700860","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Evidence of blood-brain barrier disruption in pathologic stage IV chronic traumatic encephalopathy without dementia. 无痴呆的病理期慢性创伤性脑病的血脑屏障破坏证据。

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2026-04-17 DOI: 10.5414/NP301733

Jeff Henderson, Adam McGlinchey, Bríd Murphy, Aoife Canney, Matthew Campbell, Michael Farrell

{"title":"Evidence of blood-brain barrier disruption in pathologic stage IV chronic traumatic encephalopathy without dementia.","authors":"Jeff Henderson, Adam McGlinchey, Bríd Murphy, Aoife Canney, Matthew Campbell, Michael Farrell","doi":"10.5414/NP301733","DOIUrl":"10.5414/NP301733","url":null,"abstract":"Repetitive head injury in athletes has been increasingly linked to the development of chronic traumatic encephalopathy (CTE), a progressive neurodegenerative disorder. However, its underlying pathobiology remains poorly understood, and definitive diagnosis requires post-mortem examination due to the absence of established in-life biomarkers. Here, we report the neuropathological findings in a retired elite rugby union player with a prolonged history of repetitive head impacts and progressive behavioral changes in the decade preceding his death at the age of 60. The clinical course was characterized by gradually progressive behavioral and affective disturbance in the absence of overt cognitive impairment. Neuropathological findings were consistent with stage IV CTE, with phosphorylated tau (p-Tau) deposition involving neocortical, hippocampal, and midbrain regions, and exhibiting a characteristic distribution in the sulcal depths and perivascular zones. No β-amyloid, α-synuclein, or TDP-43 pathology was identified, suggesting the absence of coexistent neurodegenerative tauopathies. Analysis of blood-brain barrier (BBB) integrity demonstrated reduced claudin-5 immunoreactivity and diffuse immunoglobulin G extravasation in the sulcal depths, overlapping with dense p-Tau deposition, suggestive of BBB dysfunction. To our knowledge, this is the first description of BBB alterations in a case of CTE without dementia or evidence of a coexisting neurodegenerative disease. While based on a single case, warranting cautious interpretation, these findings add to accumulating evidence suggesting that BBB alteration may represent a hallmark feature of CTE.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147700794","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Glioblastoma, IDH-wildtype with melanocytic differentiation: An exceedingly rare morphology and immunophenotype. 胶质母细胞瘤，idh野生型伴黑素细胞分化：一种极其罕见的形态和免疫表型。

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2026-04-17 DOI: 10.5414/NP301736

Simone Poidomani, Serena Salzano, Gaetano Magro, Giuseppe Broggi

引用次数: 0

The "Azzopardi phenomenon" in high-grade astrocytoma with a PNET-like component. 具有pnet样成分的高级别星形细胞瘤中的“Azzopardi现象”。

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2026-03-31 DOI: 10.5414/NP301641

Masayuki Shintaku, Tetsuo Hashiba, Masahiro Nonaka, Akio Asai, Koji Tsuta

引用次数: 0

Retrospective neuropathologic analysis of adult spinal tumors in a single neuroscience center 2018 - 2023. 2018 - 2023年单个神经科学中心成人脊柱肿瘤回顾性神经病理学分析。

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2026-03-31 DOI: 10.5414/NP301722

Ciara O'Donoghue, Beibhinn Wilkins, Alan Beausang, Jane Cryan, Michael Farrell, Jennifer Garry, Ciara Heeney, Josephine Heffernan, Rachel Howley, Niamh Kernan, Seamus Looby, Arooj Fatima, Alan Power, Ashling Spillane, Andrea Walsh, Francesca M Brett

{"title":"Retrospective neuropathologic analysis of adult spinal tumors in a single neuroscience center 2018 - 2023.","authors":"Ciara O'Donoghue, Beibhinn Wilkins, Alan Beausang, Jane Cryan, Michael Farrell, Jennifer Garry, Ciara Heeney, Josephine Heffernan, Rachel Howley, Niamh Kernan, Seamus Looby, Arooj Fatima, Alan Power, Ashling Spillane, Andrea Walsh, Francesca M Brett","doi":"10.5414/NP301722","DOIUrl":"10.5414/NP301722","url":null,"abstract":"Spinal tumors are classified as extradural or intradural. The latter are further divided into intradural/extramedullary and intradural/intramedullary. The location, coupled with radiological assessment, intraoperative findings, size of biopsy, histological features, and molecular analysis serve to aid accurate diagnosis. We compiled a neuropathologic database of all adult (over 18 years) brain and spinal cord tumors diagnosed at the National Neuroscience Centre in Beaumont Hospital from 2018 to 2023. In this retrospective audit we identified 3,987 tumors, of which 90% (3,596) were intracranial and 10% (391) were spinal. The majority of the spinal tumors were intradural (n = 198) with extradural (n = 122) and intramedullary (n = 71) being much less common. In this review we outline the commonest tumors encountered, by location and age group, unusual tumors that may come to light, and difficulties that may arise, specifically with sampling.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147582150","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Posterior fossa ependymoma harboring H3K27M mutation: A rare case report with clinical follow-up and diagnostic challenges. 后窝室管膜瘤携带H3K27M突变：一例罕见病例报告，临床随访和诊断挑战。

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2026-01-01 DOI: 10.5414/NP301708

Sumanta Das, Bheru Dan Charan, Sunita Ahlawat, Rakesh Kumar Gupta, Salman Shaikh, Noopur Sharma, Suman S Karanth, Rana Patir

{"title":"Posterior fossa ependymoma harboring H3K27M mutation: A rare case report with clinical follow-up and diagnostic challenges.","authors":"Sumanta Das, Bheru Dan Charan, Sunita Ahlawat, Rakesh Kumar Gupta, Salman Shaikh, Noopur Sharma, Suman S Karanth, Rana Patir","doi":"10.5414/NP301708","DOIUrl":"10.5414/NP301708","url":null,"abstract":"Posterior fossa ependymomas may be classified based on H3 p.K28Me3 (also called as H3K27Me3 or K27Me3) expression status, with group A characterized by loss of K27Me3 expression. We present a rare case of posterior fossa ependymoma with H3K27M mutation, typically associated with diffuse midline gliomas. A 5-year-old child presented with headache and vomiting. Magnetic resonance imaging (MRI) revealed a 4th ventricular space-occupying lesion extending through the bilateral foramina of Luschka, radiologically consistent with ependymoma. Following maximal surgical resection and radiotherapy (60 Gy), the patient experienced recurrence after 1 year. Histopathological examination showed a moderately to highly cellular tumor with perivascular pseudorosettes and brisk mitotic activity. Immunohistochemistry demonstrated diffuse GFAP positivity, OLIG2 negativity, and characteristic dot-like EMA positivity. Notably, the tumor showed loss of K27Me3 expression and strong diffuse nuclear expression of H3K27M and EZH2. While H3K27M mutations are hallmark features of diffuse midline gliomas, rare cases of posterior fossa ependymomas harboring these mutations have been reported. Recent studies suggest molecular similarities between diffuse midline gliomas and posterior fossa ependymomas expressing H3K27M and EZHIP, potentially reflecting shared hindbrain developmental programs in their biological origins.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":"10-16"},"PeriodicalIF":0.8,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145999520","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Clinical Neuropathology 1-2026. 临床神经病理学1-2026。

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2026-01-01 DOI: 10.5414/NPP45001

Christian Mawrin

引用次数: 0

The role of immunohistochemical CIC expression in oligodendrogliomas for recurrence risk stratification. 免疫组织化学CIC表达在少突胶质细胞瘤复发风险分层中的作用。

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2026-01-01 DOI: 10.5414/NP301713

Elif Dogan Kabadayi, Mehmet Arda Temena, Fevziye Ilknur Kayali, Havva Beyaz, Ahmet Deniz Belen, Servet Guresci

{"title":"The role of immunohistochemical CIC expression in oligodendrogliomas for recurrence risk stratification.","authors":"Elif Dogan Kabadayi, Mehmet Arda Temena, Fevziye Ilknur Kayali, Havva Beyaz, Ahmet Deniz Belen, Servet Guresci","doi":"10.5414/NP301713","DOIUrl":"10.5414/NP301713","url":null,"abstract":"Oligodendrogliomas (ODG) account for ~ 5 - 7% of neuroepithelial tumors. Since the 2016 World Health Organization classification, ODG have been defined by IDH mutation and 1p/19q co-deletion, a genetic profile typically linked with classic oligodendroglial morphology and better survival compared with astrocytic gliomas. Although this genotype is considered a favorable prognostic marker, a subset of ODGs shows early recurrence and aggressive behavior, highlighting the need for additional prognostic indicators. Capicua (CIC), located on chromosome 19q13.2, is a transcriptional repressor downstream of receptor tyrosine kinase signaling. Loss of CIC function increases neural stem cell proliferation, promotes oligodendrocyte progenitor specification, and activates proliferative pathways. Somatic CIC alterations have been reported in up to 70% of ODGs, nearly always in the setting of 1p/19q co-deletion. In this study, we investigated the prognostic value of CIC immunohistochemical (IHC) expression in a homogeneous cohort of IDH-mutant, 1p/19q-codeleted ODGs. Our results demonstrated that complete CIC expression loss and 19q polysomy greater than 22.5%, together with mitotic counts ≥ 6 per 10 high-power fields, were significantly associated with early disease recurrence. Although the absence of molecular confirmation of CIC alterations limits interpretation, the findings suggest that CIC IHC can serve as a surrogate marker to identify patients who may benefit from additional molecular analysis. Conclusion: CIC; loss, 19q polysomy, and elevated mitotic activity may function as valuable prognostic indicators in ODGs. These features could improve risk stratification and guide personalized therapeutic strategies in otherwise favorable cases.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":"2-9"},"PeriodicalIF":0.8,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145999576","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0